Background. Disability in multiple sclerosis (MS) is related to neuroaxonal degeneration. A reliable blood biomarker for neuroaxonal degeneration is needed. Objectives. To explore the relationship between cerebrospinal fluid (CSF) and serum concentrations of a protein biomarker for neuroaxonal degeneration, the neurofilaments heavy chain (NfH). Methods. An exploratory cross-sectional (n = 51) a...

PURPOSE OF REVIEW Multiple sclerosis (MS) treatments targeting the inflammatory nature of the disease have become increasingly effective in recent years. However, our efforts at targeting the progressive disease phase have so far been largely unsuccessful. This has led to the hypothesis that disease mechanisms independent of an adaptive immune response contribute to disease progression and clos...

BACKGROUND Neurodegeneration with brain iron accumulation is a rare neurodegenerative disorder characterized by iron deposition in the basal ganglia and neuroaxonal dystrophy. Familial cases with mutations in the pantothenate kinase gene are associated with a specific phenotype. In contrast, sporadic cases are heterogeneous in their clinical presentation. OBJECTIVE To describe an atypical cas...

The 2 major types of neurodegeneration with brain iron accumulation (NBIA) are the pantothenate kinase type 2 (PANK2)-associated neurodegeneration (PKAN) and NBIA2 or infantile neuroaxonal dystrophy (INAD) due to mutations in the phospholipase A2, group VI (PLA2G6) gene. We have recently demonstrated clinical heterogeneity in patients with mutations in the PLA2G6 gene by identifying a poorly de...

Creswell, and O. Blair. 1992. Poly I:C induces development of diabetes mellitus in BB rat. Diabetes 41:515-520. Sternthal, E., A. A. Like, K. Sarantis, and L. E. Braverman. 1981. Lymphocytic thyroiditis and diabetes in the BB/W rat. A new model of autoimmune endocrinopathy. Diabetes 30:1058-1061. Thomas, V.A., B. A. Woda, E. S. Handler, D. L. Greiner, J. P. Mordes, and A. A. Rossini. 1991. Alte...

The PLA2G6 gene encodes a group VIA calcium independent phospholipase A2 (iPLA2β), which hydrolyses glycerophospholipids to release fatty acids and lysophospholipids. Mutations in PLA2G6 are associated with a number of neurodegenerative disorders including neurodegeneration with brain iron accumulation (NBIA), infantile neuroaxonal dystrophy (INAD), and dystonia parkinsonism, collectively known...

Ion channels are crucial components of cellular excitability and are involved in many neurological diseases. This review focuses on the sodium leak, G protein-coupled receptors (GPCRs)-activated NALCN channel that is predominantly expressed in neurons where it regulates the resting membrane potential and neuronal excitability. NALCN is part of a complex that includes not only GPCRs, but also UN...